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Aliases for TCHP Gene

Aliases for TCHP Gene

  • Trichoplein Keratin Filament Binding 2 3 5
  • Mitostatin 2 3 4
  • Mitochondrial Protein With Oncostatic Activity 3 4
  • Tumor Suppressor Protein 3 4
  • Trichoplein Keratin Filament-Binding Protein 3
  • Trichoplein, Keratin Filament Binding 2
  • Protein TCHP 4
  • TpMs 3

External Ids for TCHP Gene

Previous GeneCards Identifiers for TCHP Gene

  • GC12P108802
  • GC12P110338
  • GC12P107354

Summaries for TCHP Gene

GeneCards Summary for TCHP Gene

TCHP (Trichoplein Keratin Filament Binding) is a Protein Coding gene. Diseases associated with TCHP include Vulvar Sarcoma. Among its related pathways are Cytoskeleton remodeling Neurofilaments.

UniProtKB/Swiss-Prot for TCHP Gene

  • Tumor suppressor which has the ability to inhibit cell growth and be pro-apoptotic during cell stress. Inhibits cell growth in bladder and prostate cancer cells by a down-regulation of HSPB1 by inhibiting its phosphorylation. May act as a capping or branching protein for keratin filaments in the cell periphery. May regulate K8/K18 filament and desmosome organization mainly at the apical or peripheral regions of simple epithelial cells (PubMed:15731013, PubMed:18931701). Is a negative regulator of ciliogenesis (PubMed:25270598).

Gene Wiki entry for TCHP Gene

No data available for Entrez Gene Summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TCHP Gene

Genomics for TCHP Gene

Regulatory Elements for TCHP Gene

Enhancers for TCHP Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH12F109932 0.2 ENCODE 12.3 +52.5 52465 1.0 GLIS2 MTA2 POLR2A IKZF1 SCRT2 NBN NR2F2 TCHP GLTP ENSG00000249094 GIT2 ENSG00000277299 PIR43904
GH12F109963 0.5 ENCODE 11.5 +83.8 83778 1.2 BCOR KLF1 ZMYM3 SIN3A FEZF1 ZNF384 ZFHX2 ZNF366 ZNF169 ADNP GIT2 ANKRD13A TCHP TRPV4 ENSG00000277299
GH12F109966 0.5 ENCODE 11.5 +87.0 87004 2.8 HDGF ATF1 PKNOX1 ARNT MLX SIN3A DMAP1 SLC30A9 ZNF207 KLF13 TRPV4 GIT2 UBE3B ANKRD13A TCHP C12orf76 GLTP ENSG00000277299
GH12F109961 0.2 ENCODE 11.1 +81.4 81437 1.9 POLR2A GIT2 GLTP ANKRD13A TCHP ENSG00000249094 ENSG00000277299
GH12F109879 0.3 FANTOM5 2 -2.6 -2562 0.2 SMARCA4 ZBTB48 ZNF652 TCHP FAM222A GLTP RN7SL441P
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around TCHP on UCSC Golden Path with GeneCards custom track

Promoters for TCHP Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001025105 -480 1601 HDGF ZNF133 SIN3A ZNF2 ELK1 ZNF143 FOS ZNF263 YY2 NFYC

Genomic Location for TCHP Gene

Chromosome:
12
Start:
109,880,680 bp from pter
End:
109,983,841 bp from pter
Size:
103,162 bases
Orientation:
Plus strand

Genomic View for TCHP Gene

Genes around TCHP on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TCHP Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TCHP Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TCHP Gene

Proteins for TCHP Gene

  • Protein details for TCHP Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9BT92-TCHP_HUMAN
    Recommended name:
    Trichoplein keratin filament-binding protein
    Protein Accession:
    Q9BT92
    Secondary Accessions:
    • Q8NAG0

    Protein attributes for TCHP Gene

    Size:
    498 amino acids
    Molecular mass:
    61072 Da
    Quaternary structure:
    • Interacts specifically with keratin proteins including, KRT5, KRT6A, KRT8, KRT14, KRT16 and KRT18 (PubMed:15731013). Interacts with KCTD17 (PubMed:25270598).

neXtProt entry for TCHP Gene

Post-translational modifications for TCHP Gene

  • Ubiquitinated. Ubiquitination by the BCR(KCTD17) E3 ubiquitin ligase complex results in proteasomal degradation, and induces ciliogenesis.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for TCHP Gene

Domains & Families for TCHP Gene

Protein Domains for TCHP Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for TCHP Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9BT92

UniProtKB/Swiss-Prot:

TCHP_HUMAN :
  • Belongs to the TCHP family.
Family:
  • Belongs to the TCHP family.
genes like me logo Genes that share domains with TCHP: view

No data available for Gene Families for TCHP Gene

Function for TCHP Gene

Molecular function for TCHP Gene

UniProtKB/Swiss-Prot Function:
Tumor suppressor which has the ability to inhibit cell growth and be pro-apoptotic during cell stress. Inhibits cell growth in bladder and prostate cancer cells by a down-regulation of HSPB1 by inhibiting its phosphorylation. May act as a capping or branching protein for keratin filaments in the cell periphery. May regulate K8/K18 filament and desmosome organization mainly at the apical or peripheral regions of simple epithelial cells (PubMed:15731013, PubMed:18931701). Is a negative regulator of ciliogenesis (PubMed:25270598).

Gene Ontology (GO) - Molecular Function for TCHP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 15731013
genes like me logo Genes that share ontologies with TCHP: view

Phenotypes for TCHP Gene

genes like me logo Genes that share phenotypes with TCHP: view

Animal Models for TCHP Gene

MGI Knock Outs for TCHP:
  • Tchp tm1a(EUCOMM)Wtsi

Animal Model Products

Inhibitory RNA Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for TCHP Gene

Localization for TCHP Gene

Subcellular locations from UniProtKB/Swiss-Prot for TCHP Gene

Cytoplasm, cytoskeleton. Cytoplasm. Cell membrane. Mitochondrion. Cell junction, desmosome.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for TCHP Gene COMPARTMENTS Subcellular localization image for TCHP gene
Compartment Confidence
cytoskeleton 5
mitochondrion 5
plasma membrane 5
cytosol 3
nucleus 3

Gene Ontology (GO) - Cellular Components for TCHP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA,IDA 18931701
GO:0005739 mitochondrion IEA,IDA 18931701
GO:0005813 centrosome IDA 21399614
GO:0005856 cytoskeleton IEA --
GO:0005882 intermediate filament IEA --
genes like me logo Genes that share ontologies with TCHP: view

Pathways & Interactions for TCHP Gene

genes like me logo Genes that share pathways with TCHP: view

Pathways by source for TCHP Gene

1 GeneGo (Thomson Reuters) pathway for TCHP Gene

Gene Ontology (GO) - Biological Process for TCHP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006915 apoptotic process IEA,IDA 18931701
GO:0030030 cell projection organization IEA --
GO:0030308 negative regulation of cell growth IDA 18931701
GO:1902018 negative regulation of cilium assembly IMP 25270598
genes like me logo Genes that share ontologies with TCHP: view

No data available for SIGNOR curated interactions for TCHP Gene

Transcripts for TCHP Gene

Unigene Clusters for TCHP Gene

Trichoplein, keratin filament binding:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for TCHP Gene

No ASD Table

Relevant External Links for TCHP Gene

GeneLoc Exon Structure for
TCHP
ECgene alternative splicing isoforms for
TCHP

Expression for TCHP Gene

mRNA expression in normal human tissues for TCHP Gene

Protein differential expression in normal tissues from HIPED for TCHP Gene

This gene is overexpressed in Heart (59.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for TCHP Gene



Protein tissue co-expression partners for TCHP Gene

NURSA nuclear receptor signaling pathways regulating expression of TCHP Gene:

TCHP

SOURCE GeneReport for Unigene cluster for TCHP Gene:

Hs.410924

mRNA Expression by UniProt/SwissProt for TCHP Gene:

Q9BT92-TCHP_HUMAN
Tissue specificity: Expressed at high levels in normal urothelial and breast epithelial cells. Also expressed in the smooth muscle and endothelial cells. Reduced expression seen in advanced bladder and breast carcinomas (at protein level). Ubiquitous. Expressed at highest levels in the heart, skeletal muscle, kidney, liver and testis.
genes like me logo Genes that share expression patterns with TCHP: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for TCHP Gene

Orthologs for TCHP Gene

This gene was present in the common ancestor of chordates.

Orthologs for TCHP Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia TCHP 34 35
  • 98.72 (n)
dog
(Canis familiaris)
Mammalia TCHP 34 35
  • 86.68 (n)
cow
(Bos Taurus)
Mammalia TCHP 34 35
  • 85.88 (n)
mouse
(Mus musculus)
Mammalia Tchp 34 16 35
  • 80.95 (n)
rat
(Rattus norvegicus)
Mammalia Tchp 34
  • 79.95 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia TCHP 35
  • 60 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia TCHP 35
  • 57 (a)
OneToOne
chicken
(Gallus gallus)
Aves TCHP 34 35
  • 63.66 (n)
tropical clawed frog
(Silurana tropicalis)
Amphibia tchp 34
  • 61.91 (n)
zebrafish
(Danio rerio)
Actinopterygii tchp 34 35
  • 60.91 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 44 (a)
OneToOne
Species where no ortholog for TCHP was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for TCHP Gene

ENSEMBL:
Gene Tree for TCHP (if available)
TreeFam:
Gene Tree for TCHP (if available)

Paralogs for TCHP Gene

No data available for Paralogs for TCHP Gene

Variants for TCHP Gene

Sequence variations from dbSNP and Humsavar for TCHP Gene

SNP ID Clin Chr 12 pos Sequence Context AA Info Type
rs200027650 A pancreatic carcinoma sample 109,904,025(+) TGCAG(A/G)AGGAG nc-transcript-variant, reference, missense, utr-variant-5-prime
rs202208566 A gastric carcinoma sample 109,903,156(+) GGATG(C/T)CTGAC nc-transcript-variant, reference, missense, utr-variant-5-prime
rs10128780 -- 109,886,146(+) ttatt(C/T)attca intron-variant
rs1045802 -- 109,916,831(+) CTTAC(A/C)CAAGC nc-transcript-variant, utr-variant-3-prime
rs10774978 -- 109,904,128(+) AGCCA(A/G)AGAAG nc-transcript-variant, reference, missense, utr-variant-5-prime

Variation tolerance for TCHP Gene

Residual Variation Intolerance Score: 88.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 7.99; 84.12% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for TCHP Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
TCHP

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for TCHP Gene

Disorders for TCHP Gene

MalaCards: The human disease database

(1) MalaCards diseases for TCHP Gene - From: DISEASES

Disorder Aliases PubMed IDs
vulvar sarcoma
  • sarcoma of vulva
- elite association - COSMIC cancer census association via MalaCards
Search TCHP in MalaCards View complete list of genes associated with diseases

Relevant External Links for TCHP

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
TCHP
genes like me logo Genes that share disorders with TCHP: view

No data available for UniProtKB/Swiss-Prot and Genatlas for TCHP Gene

Publications for TCHP Gene

  1. Identification of trichoplein, a novel keratin filament-binding protein. (PMID: 15731013) Nishizawa M. … Inagaki M. (J. Cell Sci. 2005) 2 3 4 22 64
  2. Ubiquitin-proteasome system controls ciliogenesis at the initial step of axoneme extension. (PMID: 25270598) Kasahara K. … Inagaki M. (Nat. Commun. 2014) 3 4 64
  3. Trichoplein/mitostatin regulates endoplasmic reticulum-mitochondria juxtaposition. (PMID: 20930847) Cerqua C. … Scorrano L. (EMBO Rep. 2010) 2 3 64
  4. MITOSTATIN, a putative tumor suppressor on chromosome 12q24.1, is downregulated in human bladder and breast cancer. (PMID: 18931701) Vecchione A. … Baffa R. (Oncogene 2009) 3 4 64
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64

Products for TCHP Gene

Sources for TCHP Gene

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